Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SIN3B	23309	broad.mit.edu	37	19	16974605	16974605	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:16974605G>A	ENST00000379803.1	+	11	1491	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SIN3B_ENST00000248054.5_Missense_Mutation_p.E461K|SIN3B_ENST00000595541.1_Missense_Mutation_p.E51K	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	493	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGAGCGCTTCGAGGTGTGTGT	0.612000													12	41					0	0	0.013537	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257020	69257020	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:69257020C>G	ENST00000439696.2	-	2	548	c.247G>C	c.(247-249)Gac>Cac	p.D83H	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D83H|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	83					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGCGGCTGTCTCGCGAGCTC	0.682000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	31					0	0	0.001855	0	0
TRPM7	54822	broad.mit.edu	37	15	50867173	50867173	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:50867173G>A	ENST00000313478.7	-	34	5176	c.4895C>T	c.(4894-4896)aCc>aTc	p.T1632I	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.T1631I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1632	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTGACCAGGTACACTGTAC	0.388000													33	115					0	0	0.013726	0	0
DLL1	28514	broad.mit.edu	37	6	170594698	170594698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:170594698C>T	ENST00000366756.3	-	6	1154	c.821G>A	c.(820-822)tGc>tAc	p.C274Y		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	274	EGF-like 2.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGGCAGTTGCACTGCCAGGG	0.627000													23	45					0	0	0.014323	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:178937422T>C	ENST00000263967.3	+	12	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	604	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C604R(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACTTCTGGACTGTAATTACCC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	35					0	0	0.004007	0	0
DMD	1756	broad.mit.edu	37	X	32380945	32380945	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:32380945T>C	ENST00000357033.4	-	37	5491	c.5285A>G	c.(5284-5286)cAt>cGt	p.H1762R	DMD_ENST00000378677.2_Missense_Mutation_p.H1758R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1762	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCAAATCGATGGTTGAGCTC	0.483000													30	103					0	0	0.012213	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68050595	68050595	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:68050595G>A	ENST00000329153.5	+	25	3696	c.3564G>A	c.(3562-3564)caG>caA	p.Q1188Q	PLEKHH1_ENST00000417684.2_Silent_p.Q53Q	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1188	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGCTGAACAGCTGAGGTAGG	0.582000											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0.004482	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747352	7747352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:7747352G>A	ENST00000597959.1	+	3	389	c.389G>A	c.(388-390)cGc>cAc	p.R130H	TRAPPC5_ENST00000317378.5_Silent_p.A71A|TRAPPC5_ENST00000426877.2_Silent_p.A71A|TRAPPC5_ENST00000596148.1_Silent_p.A71A|TRAPPC5_ENST00000595985.1_Intron																							CGCTGGTGGCGCGCGAAAAGG	0.711000													10	27					0	0	0.008291	0	0
DUOX1	53905	broad.mit.edu	37	15	45428812	45428812	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:45428812C>T	ENST00000321429.4	+	10	1418	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	DUOX1_ENST00000389037.3_Silent_p.G337G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	337	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCCCCCTGGCGTCTACATGA	0.592000													11	52					0	0	0.008291	0	0
ZNF449	203523	broad.mit.edu	37	X	134483215	134483215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:134483215G>T	ENST00000339249.4	+	3	675	c.535G>T	c.(535-537)Gaa>Taa	p.E179*		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTACTGGAGAATGTCAGAA	0.537000													10	99					7.48243e-07	8.09666e-07	0.006214	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													3	18					0	0	0.009096	0	0
SYT12	91683	broad.mit.edu	37	11	66811318	66811318	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:66811318G>A	ENST00000393946.2	+	8	1993	c.831G>A	c.(829-831)caG>caA	p.Q277Q	SYT12_ENST00000525457.1_Silent_p.Q277Q|SYT12_ENST00000527043.1_Silent_p.Q277Q			Q8IV01	SYT12_HUMAN	synaptotagmin XII	277						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TACAGGACCAGAACAAGGTAA	0.552000													14	49					0	0	0.001855	0	0
CABIN1	23523	broad.mit.edu	37	22	24480679	24480679	+	Missense_Mutation	SNP	G	G	C	rs35231087		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr22:24480679G>C	ENST00000398319.2	+	21	3443	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	CABIN1_ENST00000263119.5_Missense_Mutation_p.E1020Q|CABIN1_ENST00000405822.2_Missense_Mutation_p.E970Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1020					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTCGCACAGAGAGGCCAGC	0.557000													21	66					0	0	0.008871	0	0
THEMIS2	9473	broad.mit.edu	37	1	28208651	28208651	+	Silent	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:28208651C>G	ENST00000373921.3	+	4	820	c.816C>G	c.(814-816)cgC>cgG	p.R272R	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		CTGAGGGCCGCCCCATCTTCC	0.632000													14	35					0	0	0.002450	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68050596	68050596	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:68050596C>T	ENST00000329153.5	+	25	3697	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	PLEKHH1_ENST00000417684.2_Silent_p.L54L	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1189	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGCTGAACAGCTGAGGTAGGT	0.582000											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	0.006214	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	53					0	0	0.000602	0	0
BLNK	29760	broad.mit.edu	37	10	97956812	97956812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:97956812G>C	ENST00000224337.5	-	16	1244	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	BLNK_ENST00000413476.2_Intron|BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Nonsense_Mutation_p.S345*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	368	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATAAGAAATGATCCATCCTG	0.274000													5	36					0	0	0.001168	0	0
HIPK4	147746	broad.mit.edu	37	19	40887043	40887043	+	Silent	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:40887043G>C	ENST00000291823.2	-	3	1139	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	285	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAACGACTTGAGCATATACT	0.632000													12	34					0	0	0.010729	0	0
SLC6A17	388662	broad.mit.edu	37	1	110709557	110709557	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:110709557G>A	ENST00000331565.4	+	2	491	c.6G>A	c.(4-6)ccG>ccA	p.P2P	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	2					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATCAATGCCGAAGAACAGCA	0.572000													12	11					0	0	0.004007	0	0
SDK1	221935	broad.mit.edu	37	7	4116798	4116798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:4116798C>T	ENST00000404826.2	+	21	3318	c.3179C>T	c.(3178-3180)aCc>aTc	p.T1060I	SDK1_ENST00000389531.3_Missense_Mutation_p.T1060I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1060	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACTTCATCCACCATTTCTTCT	0.562000													6	27					0	0	0.001168	0	0
SOBP	55084	broad.mit.edu	37	6	107854759	107854759	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:107854759T>G	ENST00000317357.5	+	4	1177	c.518T>G	c.(517-519)tTc>tGc	p.F173C		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	173							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GTGAAAAGCTTCTGCAGCGAG	0.517000													29	115					0	0	0.007291	0	0
UBR5	51366	broad.mit.edu	37	8	103359220	103359220	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:103359220T>A	ENST00000520539.1	-	6	1093	c.487A>T	c.(487-489)Aca>Tca	p.T163S	UBR5_ENST00000521922.1_Missense_Mutation_p.T163S|UBR5_ENST00000220959.4_Missense_Mutation_p.T163S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	163					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCGTCCTGTCCGAATAACT	0.567000													24	197					0	0	0.004656	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762943	81762943	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:81762943G>A	ENST00000541570.2	-	0	155				PPFIA2_ENST00000443686.3_Missense_Mutation_p.R334C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R280C|PPFIA2_ENST00000541017.1_De_novo_Start_InFrame|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R359C|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R415C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R433C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R415C	NM_001220479.1	NP_001207408.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCTCATACGTTCTTCAATA	0.318000													6	17					0	0	0.001168	0	0
WFDC8	90199	broad.mit.edu	37	20	44181876	44181876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:44181876C>T	ENST00000357199.4	-	5	563	c.485G>A	c.(484-486)cGt>cAt	p.R162H	WFDC8_ENST00000289953.2_Missense_Mutation_p.R162H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	162	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACACTCCTTACGTTCAGTGAA	0.488000													11	58					0	0	0.013537	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	24					0	0	0.006320	0	0
COL4A6	1288	broad.mit.edu	37	X	107417817	107417817	+	Silent	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:107417817T>C	ENST00000334504.7	-	31	3224	c.2991A>G	c.(2989-2991)ccA>ccG	p.P997P	COL4A6_ENST00000372216.4_Silent_p.P998P|COL4A6_ENST00000394872.2_Silent_p.P998P|COL4A6_ENST00000545689.1_Silent_p.P997P|COL4A6_ENST00000538570.1_Silent_p.P997P	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	998	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGTAGGCCTGGTGGTCCAG	0.537000									Alport syndrome with Diffuse Leiomyomatosis				17	45					0	0	0.007413	0	0
DVL3	1857	broad.mit.edu	37	3	183882981	183882981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:183882981C>T	ENST00000313143.3	+	6	928	c.680C>T	c.(679-681)tCt>tTt	p.S227F	DVL3_ENST00000431765.1_Missense_Mutation_p.S227F|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	227					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGAAGGTTTCTCGGATTGAG	0.597000													13	30					0	0	0.001855	0	0
CPNE9	151835	broad.mit.edu	37	3	9757188	9757188	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:9757188A>T	ENST00000383832.3	+	13	990	c.800A>T	c.(799-801)aAg>aTg	p.K267M	CPNE9_ENST00000383831.3_Missense_Mutation_p.K267M	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	267	Poly-Lys.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGTAAGAAGAAGAAATATGTC	0.498000													25	43					0	0	0.006320	0	0
SLIT3	6586	broad.mit.edu	37	5	168112816	168112816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:168112816C>T	ENST00000519560.1	-	31	3850	c.3431G>A	c.(3430-3432)cGc>cAc	p.R1144H	SLIT3_ENST00000404867.3_Missense_Mutation_p.R1144H|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1151H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1144	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGCAGCGGCAGGTGGG	0.647000													4	20					0	0	0.000602	0	0
LRP1	4035	broad.mit.edu	37	12	57571375	57571375	+	Splice_Site	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:57571375G>T	ENST00000243077.3	+	26	4827		c.e26+1			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGACGCCAGGTCAGCACCCT	0.652000													9	19					2.74318e-10	3.10751e-10	0.006214	1	0
TWF2	11344	broad.mit.edu	37	3	52263196	52263196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:52263196C>T	ENST00000305533.5	-	9	1147	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGTCAGCTCTGCCCCATCG	0.652000													4	60					0	0	0.000602	0	0
VIT	5212	broad.mit.edu	37	2	37028521	37028521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:37028521C>T	ENST00000379242.3	+	13	1438	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I	VIT_ENST00000401530.1_Missense_Mutation_p.T343I|VIT_ENST00000379241.3_Missense_Mutation_p.T342I|VIT_ENST00000497382.1_Missense_Mutation_p.T33I|VIT_ENST00000389975.3_Missense_Mutation_p.T364I|VIT_ENST00000404084.1_Missense_Mutation_p.T316I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	364	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGAAAATTACTCAGAGAGGA	0.393000													13	167					0	0	0.001855	0	0
USP4	7375	broad.mit.edu	37	3	49362439	49362439	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:49362439T>G	ENST00000351842.4	-	5	529	c.521A>C	c.(520-522)aAc>aCc	p.N174T	USP4_ENST00000416417.1_Missense_Mutation_p.N174T|USP4_ENST00000265560.4_Missense_Mutation_p.N174T|USP4_ENST00000415188.1_Missense_Mutation_p.N174T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	174					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGCAGGGATGTTGAATAGCTT	0.498000													21	109					0	0	0.002780	0	0
KIF18A	81930	broad.mit.edu	37	11	28084055	28084055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:28084055C>A	ENST00000263181.6	-	12	1889	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	533					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GAAGATCTTTCTTGAGTTCCT	0.323000													22	49					4.4004e-07	4.79743e-07	0.003330	1	0
UNC93A	54346	broad.mit.edu	37	6	167728857	167728857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:167728857G>A	ENST00000230256.3	+	8	1466	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	UNC93A_ENST00000366829.2_Missense_Mutation_p.V389M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	431						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGGAGTGCGTGGAGTCCAA	0.547000													21	306					0	0	0.003330	0	0
LPPR2	64748	broad.mit.edu	37	19	11470246	11470246	+	Silent	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:11470246C>G	ENST00000251473.5	+	4	481	c.105C>G	c.(103-105)cgC>cgG	p.R35R	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TTGCTTACCGCCTGGAGTTCA	0.622000													9	49					0	0	0.004482	0	0
ART1	417	broad.mit.edu	37	11	3680852	3680852	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:3680852C>G	ENST00000250693.1	+	3	204	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	35					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTCTTCTCTCAAGAGATTCA	0.602000													12	38					0	0	0.001855	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	58					0	0	0.009096	0	0
CNGA3	1261	broad.mit.edu	37	2	99013493	99013493	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:99013493C>T	ENST00000393504.1	+	8	2277	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	CNGA3_ENST00000272602.2_Silent_p.G620G|CNGA3_ENST00000436404.2_Silent_p.G602G|CNGA3_ENST00000409937.1_Silent_p.G624G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	620					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGGCGGGCGCGGACCCCA	0.622000													3	17					0	0	0.009096	0	0
IFT122	55764	broad.mit.edu	37	3	129180117	129180117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:129180117C>T	ENST00000296266.3	+	6	664	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Q107*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.Q107*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.Q158*|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000440957.2_5'UTR	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	107					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATTACTCATCAACTGGCATC	0.398000													15	53					0	0	0.004990	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133962932	133962932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:133962932C>T	ENST00000298622.4	+	14	2003	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGAGGAAGTCACCCGCCATC	0.647000													6	12					0	0	0.001984	0	0
OR8U1	219417	broad.mit.edu	37	11	56144000	56144000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:56144000C>G	ENST00000302270.1	+	1	901	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GAAAGAAGCTCTGAAGAAAAT	0.348000													20	110					0	0	0.010504	0	0
COL9A2	1298	broad.mit.edu	37	1	40775985	40775985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:40775985G>A	ENST00000372748.3	-	14	785	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	230	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GATGCCCTGGGGACCCTGTTG	0.527000													6	71					0	0	0.006214	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511852	72511852	+	Splice_Site	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:72511852G>T	ENST00000373208.1	+	18	2607	c.2605_splice	c.e18-1	p.G869_splice	ADAMTS14_ENST00000373207.1_Splice_Site_p.G866_splice	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	866	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCCATAGGGATCCAGTTCA	0.662000													8	20					0.00307968	0.00318967	0.003080	1	0
B3GNT8	374907	broad.mit.edu	37	19	41932174	41932174	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:41932174C>T	ENST00000321702.2	-	3	963	c.510G>A	c.(508-510)acG>acA	p.T170T	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	170					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GACTGCCCCACGTCTCTCTCA	0.627000													22	76					0	0	0.012319	0	0
EPB41L5	57669	broad.mit.edu	37	2	120925517	120925517	+	Missense_Mutation	SNP	A	A	C	rs143558813	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:120925517A>C	ENST00000263713.5	+	24	2283	c.2069A>C	c.(2068-2070)cAt>cCt	p.H690P	EPB41L5_ENST00000452780.1_Missense_Mutation_p.H689P|EPB41L5_ENST00000443902.2_Intron|EPB41L5_ENST00000488691.1_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	690						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAGGAGGGACATGGTAATAAA	0.453000													5	100					0	0	0.001168	0	0
SV2C	22987	broad.mit.edu	37	5	75427937	75427937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:75427937G>A	ENST00000502798.2	+	2	804	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R121Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	121					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGGACCGGCGGGAGCTGGAA	0.547000													7	49					0	0	0.003080	0	0
LAMA4	3910	broad.mit.edu	37	6	112441515	112441515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:112441515C>T	ENST00000230538.7	-	33	5033	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E1539K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1539K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1539K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1546	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGTATTTCTCCTGGCTTCTA	0.418000													21	68					0	0	0.014323	0	0
CNGA3	1261	broad.mit.edu	37	2	99013475	99013475	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:99013475G>A	ENST00000393504.1	+	8	2259	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	CNGA3_ENST00000272602.2_Silent_p.E614E|CNGA3_ENST00000436404.2_Silent_p.E596E|CNGA3_ENST00000409937.1_Silent_p.E618E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	614					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGATCGATGAGGAGCTGGCCA	0.622000													9	18					0	0	0.004482	0	0
PODXL2	50512	broad.mit.edu	37	3	127379692	127379692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:127379692G>A	ENST00000342480.6	+	3	860	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	274					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCTGCAGGGCTTGGGGTA	0.637000													7	45					0	0	0.003080	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919983	142919983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:142919983T>C	ENST00000408947.3	+	1	854	c.812T>C	c.(811-813)tTt>tCt	p.F271S		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	271					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCCAACATCTTTGACACTTAC	0.473000													33	86					0	0	0.013726	0	0
NUP205	23165	broad.mit.edu	37	7	135323426	135323426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:135323426G>A	ENST00000285968.6	+	38	5413	c.5387G>A	c.(5386-5388)cGg>cAg	p.R1796Q		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1796					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GATGGACCGCGGCAAGGTGAG	0.438000													43	108					0	0	0.013114	0	0
PDXDC1	23042	broad.mit.edu	37	16	15110041	15110041	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:15110041G>C	ENST00000396410.4	+	9	880	c.783G>C	c.(781-783)gaG>gaC	p.E261D	PDXDC1_ENST00000563679.1_Missense_Mutation_p.E279D|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E261D|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E234D|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E238D|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E233D|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E170D|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E246D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	261					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AACTCTGTGAGCAGTATGGCA	0.502000													8	55					0	0	0.003080	0	0
CFHR4	10877	broad.mit.edu	37	1	196871631	196871631	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:196871631G>T	ENST00000367416.2	+	2	276	c.139G>T	c.(139-141)Gca>Tca	p.A47S	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A48S	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCCAGCAGCTGCAGGACAATC	0.363000													20	117					4.35082e-09	4.85283e-09	0.010504	1	0
HOXD3	3232	broad.mit.edu	37	2	177036312	177036312	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:177036312C>T	ENST00000468418.3	+	4	2699	c.609C>T	c.(607-609)agC>agT	p.S203S	HOXD3_ENST00000249440.3_Silent_p.S203S|HOXD3_ENST00000410016.1_Silent_p.S203S			P31249	HXD3_HUMAN	homeobox D3	203					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CATACACGAGCGCGCAGCTGG	0.642000													11	35					0	0	0.010729	0	0
SPOP	8405	broad.mit.edu	37	17	47679366	47679366	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:47679366C>A	ENST00000393331.3	-	11	1311	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	SPOP_ENST00000504102.1_Missense_Mutation_p.A281S|SPOP_ENST00000503676.1_Missense_Mutation_p.A281S|SPOP_ENST00000347630.2_Missense_Mutation_p.A281S|SPOP_ENST00000393328.2_Missense_Mutation_p.A281S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	281	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CGCTCCAGGGCATACTGTAAA	0.493000										Prostate(2;0.17)			42	45					6.48837e-15	7.40798e-15	0.010771	1	0
WFS1	7466	broad.mit.edu	37	4	6303197	6303197	+	Missense_Mutation	SNP	G	G	A	rs55814513	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:6303197G>A	ENST00000226760.1	+	8	1845	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	WFS1_ENST00000503569.1_Missense_Mutation_p.A559T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	559			A -> T (in dbSNP:rs55814513).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTGCTCCGCGCCTCCATCGG	0.652000													6	100					0	0	0.001168	0	0
FAM3A	60343	broad.mit.edu	37	X	153740200	153740200	+	Silent	SNP	T	T	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:153740200T>A	ENST00000434658.2	-	3	601	c.132A>T	c.(130-132)ccA>ccT	p.P44P	FAM3A_ENST00000369643.1_Silent_p.P44P|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000359889.5_Silent_p.P44P|FAM3A_ENST00000447601.2_Silent_p.P44P|FAM3A_ENST00000369641.3_Silent_p.P44P|FAM3A_ENST00000393572.1_Silent_p.P6P	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	44						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGAGCTCTCTGGACCTGTGG	0.632000											OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	36					0	0	0.002450	0	0
KCNG4	93107	broad.mit.edu	37	16	84270496	84270496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:84270496C>T	ENST00000568181.1	-	2	716	c.596G>A	c.(595-597)cGc>cAc	p.R199H	KCNG4_ENST00000308251.4_Missense_Mutation_p.R199H			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	199						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R199H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGCCCCAGCGCGAGGAGTG	0.677000													15	36					0	0	0.002450	0	0
WNK1	65125	broad.mit.edu	37	12	989016	989016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:989016C>T	ENST00000315939.6	+	11	3294	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	WNK1_ENST00000340908.4_Missense_Mutation_p.A477V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1382V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	884					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAACAGCTGCGATCCCGGGG	0.547000													25	95					0	0	0.003330	0	0
MDGA2	161357	broad.mit.edu	37	14	47530570	47530570	+	Silent	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:47530570T>C	ENST00000426342.1	-	7	1259	c.513A>G	c.(511-513)acA>acG	p.T171T	MDGA2_ENST00000357362.3_Silent_p.T171T|MDGA2_ENST00000399232.2_Silent_p.T469T|MDGA2_ENST00000439988.2_Silent_p.T400T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	400	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCCAAGTTTGTTGTTCCCG	0.403000													8	182					0	0	0.003080	0	0
TGM4	7047	broad.mit.edu	37	3	44952543	44952543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:44952543C>T	ENST00000296125.4	+	12	1768	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	567					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCATCATTGCGGAAATTGTG	0.453000													14	61					0	0	0.002450	0	0
ANO1	55107	broad.mit.edu	37	11	70007358	70007358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:70007358G>A	ENST00000355303.5	+	17	1975	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ANO1_ENST00000538023.1_Missense_Mutation_p.R557Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R411Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R411Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R266Q|ANO1_ENST00000316296.5_Missense_Mutation_p.R499Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	557					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCCTCCGTGCGGTCCAACATC	0.592000													23	69					0	0	0.014323	0	0
PDE3A	5139	broad.mit.edu	37	12	20801805	20801805	+	Missense_Mutation	SNP	G	G	A	rs148455779		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:20801805G>A	ENST00000359062.3	+	13	2789	c.2749G>A	c.(2749-2751)Gta>Ata	p.V917I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	917	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTTTGACTTCGTAGCCAAATT	0.363000													18	60					0	0	0.008871	0	0
CAMKK1	84254	broad.mit.edu	37	17	3785559	3785559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:3785559G>A	ENST00000381771.2	-	8	938	c.791C>T	c.(790-792)gCg>gTg	p.A264V	CAMKK1_ENST00000158166.5_Missense_Mutation_p.A264V|CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000348335.2_Intron			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACCTGAGCGCGCAGCCCACGT	0.537000													5	72					0	0	0.001168	0	0
SGCA	6442	broad.mit.edu	37	17	48245850	48245850	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:48245850C>T	ENST00000262018.3	+	5	537	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SGCA_ENST00000543315.1_Silent_p.P167P|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Silent_p.P167P|SGCA_ENST00000451235.2_Silent_p.P65P	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	167					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TCTGGGAGCCCGGAGAGCTTC	0.642000													5	1					0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19478948	19478948	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:19478948C>T	ENST00000375267.2	-	47	6858	c.6855G>A	c.(6853-6855)gtG>gtA	p.V2285V	UBR4_ENST00000375226.2_Silent_p.V2285V|UBR4_ENST00000375254.3_Silent_p.V2285V|UBR4_ENST00000375217.2_Silent_p.V2285V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2285					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGAAAGTCACCTGGCTAG	0.507000													8	153					0	0	0.004482	0	0
INSL4	3641	broad.mit.edu	37	9	5233770	5233770	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:5233770A>C	ENST00000239316.4	+	2	418	c.313A>C	c.(313-315)Aag>Cag	p.K105Q		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	105					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GCCATCATTGAAGAAAATAAT	0.393000													4	66					0	0	0.009096	0	0
LRIG3	121227	broad.mit.edu	37	12	59272720	59272720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:59272720C>A	ENST00000320743.3	-	14	2255	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.E597*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	657	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACGTCATCCTCGGGCATCACA	0.552000			T	ROS1	NSCLC								9	95					0.000274275	0.000288188	0.004482	1	0
EPO	2056	broad.mit.edu	37	7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GACACTTTCCGCAAACTCTTC	0.572000													28	134					0	0	0.007291	0	0
NEB	4703	broad.mit.edu	37	2	152539240	152539240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:152539240C>G	ENST00000397345.3	-	29	3081	c.2879G>C	c.(2878-2880)gGc>gCc	p.G960A	NEB_ENST00000409198.1_Missense_Mutation_p.G960A|NEB_ENST00000427231.2_Missense_Mutation_p.G960A|NEB_ENST00000172853.10_Missense_Mutation_p.G960A|NEB_ENST00000604864.1_Missense_Mutation_p.G960A|NEB_ENST00000603639.1_Missense_Mutation_p.G960A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	960					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCACCCAGCCACAACCTTT	0.438000													3	19					0	0	0.004672	0	0
KRT14	3861	broad.mit.edu	37	17	39740142	39740142	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:39740142C>G	ENST00000167586.6	-	4	883	c.797G>C	c.(796-798)gGa>gCa	p.G266A		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	266	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATTGACATCTCCACCCACCTG	0.577000													9	108					0	0	0.006214	0	0
SCYL1	57410	broad.mit.edu	37	11	65304114	65304114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:65304114C>T	ENST00000524944.1	+	13	1742	c.1709C>T	c.(1708-1710)gCa>gTa	p.A570V	SCYL1_ENST00000420247.2_Missense_Mutation_p.A570V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A570V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A570V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A427V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A570V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A570V|SCYL1_ENST00000270176.5_Missense_Mutation_p.A570V			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	570					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCTAGCTGGGCAGGCTGGGCC	0.627000													12	67					0	0	0.010729	0	0
PTGFR	5737	broad.mit.edu	37	1	78958948	78958948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:78958948C>T	ENST00000370756.3	+	2	757	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	PTGFR_ENST00000370757.3_Missense_Mutation_p.H174Y|PTGFR_ENST00000370758.1_Missense_Mutation_p.H174Y	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	174					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCCTTGGACATCGAGACTA	0.368000													11	131					0	0	0.001855	0	0
FKBP4	2288	broad.mit.edu	37	12	2909727	2909727	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:2909727T>C	ENST00000001008.4	+	8	1203	c.1016T>C	c.(1015-1017)aTt>aCt	p.I339T	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	339	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TCTGCTGCCATTGAAAGCTGT	0.532000													9	39					0	0	0.008291	0	0
ZNF718	255403	broad.mit.edu	37	4	154749	154749	+	RNA	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:154749G>C	ENST00000510175.1	+	0	184							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAGGGCATAGAAGATTCATT	0.328000													9	39					0	0	0.008291	0	0
IGF2R	3482	broad.mit.edu	37	6	160453983	160453983	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:160453983A>G	ENST00000356956.1	+	9	1203	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	352					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GGTTCATCCTATATTTCAGAT	0.308000													21	74					0	0	0.008871	0	0
RELN	5649	broad.mit.edu	37	7	103132413	103132413	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:103132413T>C	ENST00000428762.1	-	58	9589	c.9430A>G	c.(9430-9432)Act>Gct	p.T3144A	RELN_ENST00000424685.2_Missense_Mutation_p.T3144A|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.T3144A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3144					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCATCCTTAGTGTATTCCAGC	0.378000													7	16					0	0	0.001984	0	0
TPD52	7163	broad.mit.edu	37	8	80954859	80954859	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:80954859A>T	ENST00000379096.5	-	5	545	c.431T>A	c.(430-432)tTa>tAa	p.L144*	TPD52_ENST00000520527.1_Nonsense_Mutation_p.L207*|TPD52_ENST00000448733.2_Nonsense_Mutation_p.L198*|TPD52_ENST00000518937.1_Nonsense_Mutation_p.L167*|TPD52_ENST00000519303.2_Nonsense_Mutation_p.L20*|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000517427.1_Nonsense_Mutation_p.L193*|TPD52_ENST00000537855.1_Nonsense_Mutation_p.L184*|TPD52_ENST00000379097.3_Nonsense_Mutation_p.L184*	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	184					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ACTTGCCTTTAAGTTTTCGAC	0.308000													22	67					0	0	0.003330	0	0
TREX2	11219	broad.mit.edu	37	X	152710829	152710829	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:152710829G>A	ENST00000330912.2	-	13	1610	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TREX2_ENST00000334497.2_Silent_p.L63L|TREX2_ENST00000370232.1_Silent_p.L63L|TREX2_ENST00000393862.2_Silent_p.L20L|TREX2_ENST00000370231.2_Silent_p.L20L|TREX2_ENST00000414588.1_Silent_p.L62L|TREX2_ENST00000338525.2_Silent_p.L20L|TREX2_ENST00000402951.1_Silent_p.L63L			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	63					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACACTGGGGAGCCCAGTGG	0.622000								Editing and processing nucleases					5	6					0	0	0.001168	0	0
JAG1	182	broad.mit.edu	37	20	10630209	10630209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:10630209C>T	ENST00000254958.5	-	10	1824	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	JAG1_ENST00000423891.2_Missense_Mutation_p.D278N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	437	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACAGTCGCAGTAGTAG	0.458000									Alagille Syndrome				9	39					0	0	0.004482	0	0
FILIP1	27145	broad.mit.edu	37	6	76024909	76024909	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:76024909C>A	ENST00000393004.2	-	5	860	c.639G>T	c.(637-639)aaG>aaT	p.K213N	FILIP1_ENST00000370020.1_Missense_Mutation_p.K114N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.K213N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	213										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTCAAGGAGCTTTTTTAACC	0.299000													7	29					8.12818e-05	8.66608e-05	0.001984	1	0
ESPL1	9700	broad.mit.edu	37	12	53680134	53680134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:53680134C>T	ENST00000257934.4	+	18	3705	c.3614C>T	c.(3613-3615)tCc>tTc	p.S1205F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1205F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1205					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTCCAAGCTTCCCTGAATCAT	0.587000													28	99					0	0	0.007291	0	0
CLCA4	22802	broad.mit.edu	37	1	87031654	87031654	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:87031654T>C	ENST00000370563.3	+	6	947	c.905T>C	c.(904-906)aTc>aCc	p.I302T	CLCA4_ENST00000263723.5_Missense_Mutation_p.I15T	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	302						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGCTGAAGATCAGTCAAAGA	0.413000													25	84					0	0	0.006320	0	0
MYH3	4621	broad.mit.edu	37	17	10542363	10542363	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:10542363C>G	ENST00000583535.1	-	25	3333	c.3246G>C	c.(3244-3246)aaG>aaC	p.K1082N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1082N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1082					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1082N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGCATACTTCTTGAGCCTTT	0.398000													22	71					0	0	0.004656	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042710	75042710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:75042710G>A	ENST00000343932.4	+	2	694	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	211					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCACTTCCCTGAGAGTAGCGA	0.577000													26	173					0	0	0.006320	0	0
SOBP	55084	broad.mit.edu	37	6	107854757	107854757	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:107854757C>T	ENST00000317357.5	+	4	1175	c.516C>T	c.(514-516)agC>agT	p.S172S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	172							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGGTGAAAAGCTTCTGCAGCG	0.512000													31	115					0	0	0.009535	0	0
USH2A	7399	broad.mit.edu	37	1	215955425	215955425	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:215955425G>T	ENST00000366943.2	-	54	11085	c.10699C>A	c.(10699-10701)Ctg>Atg	p.L3567M	USH2A_ENST00000307340.3_Missense_Mutation_p.L3567M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3567	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGCTTTCAGCTGATATGAA	0.438000										HNSCC(13;0.011)			26	64					2.41591e-17	2.78021e-17	0.004656	1	0
ZNF208	7757	broad.mit.edu	37	19	22157388	22157388	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:22157388A>G	ENST00000397126.4	-	4	596	c.448T>C	c.(448-450)Tat>Cat	p.Y150H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGCATATTTGCCACGT	0.328000													21	81					0	0	0.010504	0	0
IMPG2	50939	broad.mit.edu	37	3	100963246	100963246	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:100963246C>T	ENST00000193391.7	-	13	2116	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	643					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTCTTCAATCTCAGCTGGCA	0.413000													28	90					0	0	0.006320	0	0
PAPPA	5069	broad.mit.edu	37	9	119093591	119093591	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:119093591C>T	ENST00000328252.3	+	11	3585	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	PAPPA_ENST00000534838.1_Silent_p.I110I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1072					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTGCACCATCAGCTACCCAT	0.473000													26	65					0	0	0.005443	0	0
CDH10	1008	broad.mit.edu	37	5	24488189	24488189	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:24488189G>C	ENST00000264463.4	-	12	2457	c.1950C>G	c.(1948-1950)atC>atG	p.I650M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	650					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTTGTCTCTGATATCTTCTT	0.428000										HNSCC(23;0.051)			6	51					0	0	0.001168	0	0
FZD4	8322	broad.mit.edu	37	11	86662820	86662820	+	Silent	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:86662820A>G	ENST00000531380.1	-	2	1283	c.978T>C	c.(976-978)acT>acC	p.T326T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	326					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAAAAACCAAGTGAGTGTCA	0.453000													4	22					0	0	0.009096	0	0
MAG	4099	broad.mit.edu	37	19	35791165	35791165	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:35791165C>T	ENST00000361922.4	+	6	978	c.828C>T	c.(826-828)gaC>gaT	p.D276D	MAG_ENST00000392213.3_Silent_p.D276D|MAG_ENST00000537831.2_Silent_p.D251D	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	276	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGATGCGGGACGGGACAGTCC	0.687000													4	14					0	0	0.009096	0	0
LPIN3	64900	broad.mit.edu	37	20	39978495	39978495	+	Silent	SNP	C	C	T	rs150401004	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:39978495C>T	ENST00000373257.3	+	6	811	c.720C>T	c.(718-720)gcC>gcT	p.A240A		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	240					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCCTAAGAGCCGAGTCCCACA	0.637000													12	58					0	0	0.003163	0	0
RIMS2	9699	broad.mit.edu	37	8	104922562	104922562	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:104922562G>A	ENST00000262231.10	+	3	1310	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	577					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGTCAAAAGGGAAAAAGAA	0.368000										HNSCC(12;0.0054)			21	116					0	0	0.014323	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941219	52941219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:52941219C>G	ENST00000394752.3	-	19	2579	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	SFMBT1_ENST00000358080.2_Missense_Mutation_p.E733Q|SFMBT1_ENST00000394750.1_Missense_Mutation_p.E733Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.E733Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	733					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTTTTTTCTGACATTTCT	0.463000													8	87					0	0	0.003080	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690286	195690286	+	RNA	SNP	C	C	G	rs138082028	by1000genomes	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:195690286C>G	ENST00000427841.1	-	0	2209					NR_003264.2																						CTATATTCCACAGTGACCTTG	0.393000													3	50					0	0	0.004672	0	0
RXFP2	122042	broad.mit.edu	37	13	32339254	32339254	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr13:32339254A>C	ENST00000298386.2	+	4	471	c.400A>C	c.(400-402)Atg>Ctg	p.M134L	RXFP2_ENST00000380314.1_Missense_Mutation_p.M134L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	134						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTCTGTGCCGATGATTTCTAA	0.348000													6	73					0	0	0.001168	0	0
HPR	3250	broad.mit.edu	37	16	72110502	72110502	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:72110502G>A	ENST00000540303.2	+	5	601	c.569G>A	c.(568-570)gGg>gAg	p.G190E	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.G190E|HPR_ENST00000228226.8_Missense_Mutation_p.G227E	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	190	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GTAGATATTGGGCTCATCAAA	0.448000													15	75					0	0	0.003163	0	0
XPO4	64328	broad.mit.edu	37	13	21375044	21375044	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr13:21375044C>A	ENST00000400602.2	-	14	1938	c.1903G>T	c.(1903-1905)Ggc>Tgc	p.G635C	XPO4_ENST00000255305.6_Missense_Mutation_p.G635C	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	635					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATATCTTTGCCCATCTGGGGA	0.393000													35	142					4.3181e-19	5.00899e-19	0.013726	1	0
ZXDA	7789	broad.mit.edu	37	X	57935933	57935933	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:57935933C>T	ENST00000358697.4	-	1	1134	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	308	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AAGGTCCAGCCGCAGCCACCC	0.627000													7	24					0	0	0.003080	0	0
GNAL	2774	broad.mit.edu	37	18	11872355	11872355	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr18:11872355G>C	ENST00000334049.6	+	10	1728	c.1120G>C	c.(1120-1122)Gac>Cac	p.D374H	GNAL_ENST00000535121.1_Missense_Mutation_p.D297H|GNAL_ENST00000423027.3_Missense_Mutation_p.D297H|GNAL_ENST00000602628.1_Missense_Mutation_p.D90H|GNAL_ENST00000269162.5_Missense_Mutation_p.D297H|GNAL_ENST00000535980.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	297					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAAAATTGAAGACTATTTCCC	0.333000													24	71					0	0	0.003954	0	0
CPNE9	151835	broad.mit.edu	37	3	9757198	9757198	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:9757198C>T	ENST00000383832.3	+	13	1000	c.810C>T	c.(808-810)gtC>gtT	p.V270V	CPNE9_ENST00000383831.3_Silent_p.V270V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	270										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAATATGTCAACTCAGGAA	0.512000													21	35					0	0	0.003330	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													5	67					0	0	0.000602	0	0
EPHA6	285220	broad.mit.edu	37	3	97202858	97202858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:97202858G>C	ENST00000389672.5	+	10	2193	c.2155G>C	c.(2155-2157)Gag>Cag	p.E719Q	EPHA6_ENST00000502694.1_Missense_Mutation_p.E111Q|EPHA6_ENST00000442602.2_Missense_Mutation_p.E85Q|EPHA6_ENST00000514100.1_Missense_Mutation_p.E111Q	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	624	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTTGCAAAGGAGATTGATCC	0.378000													10	25					0	0	0.008291	0	0
FCRL4	83417	broad.mit.edu	37	1	157557115	157557115	+	Silent	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:157557115C>G	ENST00000271532.1	-	5	933	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	266	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGTTACCCCTCACTGTTTCAG	0.572000													108	218					0	0	0.014410	0	0
PCSK2	5126	broad.mit.edu	37	20	17434530	17434530	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:17434530C>T	ENST00000262545.2	+	9	1344	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	PCSK2_ENST00000536609.1_Silent_p.Y308Y|PCSK2_ENST00000377899.1_Silent_p.Y324Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	343	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.Y343Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCCCTGTACGACGAGAGCT	0.597000													24	50					0	0	0.004656	0	0
SLC9A6	10479	broad.mit.edu	37	X	135106627	135106627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:135106627C>T	ENST00000370695.4	+	12	1636	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	SLC9A6_ENST00000370698.3_Missense_Mutation_p.S502L|SLC9A6_ENST00000370701.1_Missense_Mutation_p.S482L	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	502					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCAATGCTGTCATGCTTGCAT	0.378000													19	119					0	0	0.012319	0	0
RRP1	8568	broad.mit.edu	37	21	45213246	45213246	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr21:45213246G>T	ENST00000497547.1	+	4	438	c.321G>T	c.(319-321)tgG>tgT	p.W107C		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	107					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATCGCGAGTGGACGGGCATTG	0.612000													9	122					4.68919e-08	5.151e-08	0.008291	1	0
NBPF15	284565	broad.mit.edu	37	1	148594513	148594513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:148594513G>A	ENST00000442702.2	+	21	2953	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	NBPF15_ENST00000369187.3_Missense_Mutation_p.R629K	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	629	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGCACTACAGAAGTGTGTTT	0.438000													18	421					0	0	0.002780	0	0
ADSSL1	122622	broad.mit.edu	37	14	105201381	105201381	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:105201381G>T	ENST00000332972.5	+	2	505	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	ADSSL1_ENST00000330877.2_Missense_Mutation_p.V73L	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	73					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CGGCCACACGGTGGTGGTGGA	0.627000													4	21					0.00909568	0.00935371	0.009096	1	0
SLC39A7	7922	broad.mit.edu	37	6	33169860	33169860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:33169860C>G	ENST00000374677.3	+	3	965	c.592C>G	c.(592-594)Cac>Gac	p.H198D	SLC39A7_ENST00000374675.3_Missense_Mutation_p.H198D	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	198						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCTCATTCTCACCACACTCT	0.527000													13	68					0	0	0.003163	0	0
SETD2	29072	broad.mit.edu	37	3	47098467	47098467	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:47098467A>C	ENST00000409792.3	-	15	6849	c.6807T>G	c.(6805-6807)aaT>aaG	p.N2269K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2269	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACACTATAATTCTGTCCCT	0.512000			"""N, F, S, Mis"""		clear cell renal carcinoma								17	48					0	0	0.006122	0	0
FN1	2335	broad.mit.edu	37	2	216274717	216274717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:216274717C>T	ENST00000354785.4	-	14	2431	c.2062G>A	c.(2062-2064)Ggc>Agc	p.G688S	FN1_ENST00000345488.5_Missense_Mutation_p.G688S|FN1_ENST00000336916.4_Missense_Mutation_p.G688S|FN1_ENST00000356005.4_Missense_Mutation_p.G688S|FN1_ENST00000432072.2_Missense_Mutation_p.G688S|FN1_ENST00000443816.1_Missense_Mutation_p.G688S|FN1_ENST00000421182.1_Missense_Mutation_p.G688S|FN1_ENST00000346544.3_Missense_Mutation_p.G688S|FN1_ENST00000359671.1_Missense_Mutation_p.G688S|FN1_ENST00000357867.4_Missense_Mutation_p.G688S|FN1_ENST00000357009.2_Missense_Mutation_p.G688S|FN1_ENST00000323926.6_Missense_Mutation_p.G688S|FN1_ENST00000446046.1_Missense_Mutation_p.G688S			P02751	FINC_HUMAN	fibronectin 1	688	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTGGTGGCCGTACTGCTGG	0.552000													19	94					0	0	0.007413	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605383	140605383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:140605383C>A	ENST00000239449.4	+	1	2306	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P616Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCTGAAGCCGATTATCCCC	0.453000													8	90					5.4927e-09	6.07971e-09	0.004482	1	0
CD93	22918	broad.mit.edu	37	20	23065975	23065975	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:23065975G>A	ENST00000246006.4	-	1	1002	c.855C>T	c.(853-855)tgC>tgT	p.C285C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	285	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCGGCAGCCGCAGAGGAAGG	0.647000													18	125					0	0	0.007413	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180884	140180884	+	Silent	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:140180884C>A	ENST00000522353.2	+	1	102	c.102C>A	c.(100-102)tcC>tcA	p.S34S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S34S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCTCTGAGG	0.667000													26	73					1.85244e-09	2.0822e-09	0.003330	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133962932	133962932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr10:133962932C>T	ENST00000298622.4	+	14	2003	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGAGGAAGTCACCCGCCATC	0.647000													6	12					0	0	0.001984	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690286	195690286	+	RNA	SNP	C	C	G	rs138082028	by1000genomes	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:195690286C>G	ENST00000427841.1	-	0	2209					NR_003264.2																						CTATATTCCACAGTGACCTTG	0.393000													3	50					0	0	0.004672	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68050595	68050595	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr14:68050595G>A	ENST00000329153.5	+	25	3696	c.3564G>A	c.(3562-3564)caG>caA	p.Q1188Q	PLEKHH1_ENST00000417684.2_Silent_p.Q53Q	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1188	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGCTGAACAGCTGAGGTAGG	0.582000											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0.004482	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257020	69257020	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr14:69257020C>G	ENST00000439696.2	-	2	548	c.247G>C	c.(247-249)Gac>Cac	p.D83H	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D83H	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	83					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGCGGCTGTCTCGCGAGCTC	0.682000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	31					0	0	0.001855	0	0
LRIG3	121227	broad.mit.edu	37	12	59272720	59272720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr12:59272720C>A	ENST00000320743.3	-	14	2255	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.E597*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	657	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACGTCATCCTCGGGCATCACA	0.552000			T	ROS1	NSCLC								9	95					0.000274275	0.000302648	0.004482	1	0
WFDC8	90199	broad.mit.edu	37	20	44181876	44181876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr20:44181876C>T	ENST00000357199.4	-	5	563	c.485G>A	c.(484-486)cGt>cAt	p.R162H	WFDC8_ENST00000289953.2_Missense_Mutation_p.R162H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	162	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACACTCCTTACGTTCAGTGAA	0.488000													11	58					0	0	0.013537	0	0
DUOX1	53905	broad.mit.edu	37	15	45428812	45428812	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr15:45428812C>T	ENST00000321429.4	+	10	1418	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	DUOX1_ENST00000389037.3_Silent_p.G337G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	337	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCCCCCTGGCGTCTACATGA	0.592000													11	52					0	0	0.008291	0	0
NEB	4703	broad.mit.edu	37	2	152539240	152539240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr2:152539240C>G	ENST00000397345.3	-	29	3081	c.2879G>C	c.(2878-2880)gGc>gCc	p.G960A	NEB_ENST00000604864.1_Missense_Mutation_p.G960A|NEB_ENST00000172853.10_Missense_Mutation_p.G960A|NEB_ENST00000603639.1_Missense_Mutation_p.G960A|NEB_ENST00000427231.2_Missense_Mutation_p.G960A|NEB_ENST00000409198.1_Missense_Mutation_p.G960A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	960					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCACCCAGCCACAACCTTT	0.438000													3	19					0	0	0.004672	0	0
KRT14	3861	broad.mit.edu	37	17	39740142	39740142	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr17:39740142C>G	ENST00000167586.6	-	4	883	c.797G>C	c.(796-798)gGa>gCa	p.G266A		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	266	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATTGACATCTCCACCCACCTG	0.577000													9	108					0	0	0.006214	0	0
RXFP2	122042	broad.mit.edu	37	13	32339254	32339254	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr13:32339254A>C	ENST00000298386.2	+	4	471	c.400A>C	c.(400-402)Atg>Ctg	p.M134L	RXFP2_ENST00000380314.1_Missense_Mutation_p.M134L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	134						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTCTGTGCCGATGATTTCTAA	0.348000													6	73					0	0	0.001168	0	0
ZNF449	203523	broad.mit.edu	37	X	134483215	134483215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chrX:134483215G>T	ENST00000339249.4	+	3	675	c.535G>T	c.(535-537)Gaa>Taa	p.E179*		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTACTGGAGAATGTCAGAA	0.537000													10	99					7.48243e-07	8.70683e-07	0.006214	1	0
EPHA6	285220	broad.mit.edu	37	3	97202858	97202858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:97202858G>C	ENST00000389672.5	+	10	2193	c.2155G>C	c.(2155-2157)Gag>Cag	p.E719Q	EPHA6_ENST00000442602.2_Missense_Mutation_p.E85Q|EPHA6_ENST00000514100.1_Missense_Mutation_p.E111Q|EPHA6_ENST00000502694.1_Missense_Mutation_p.E111Q	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	624	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTTGCAAAGGAGATTGATCC	0.378000													10	25					0	0	0.008291	0	0
PTGFR	5737	broad.mit.edu	37	1	78958948	78958948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr1:78958948C>T	ENST00000370756.3	+	2	757	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	PTGFR_ENST00000370758.1_Missense_Mutation_p.H174Y|PTGFR_ENST00000370757.3_Missense_Mutation_p.H174Y	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	174					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCCTTGGACATCGAGACTA	0.368000													11	131					0	0	0.001855	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511852	72511852	+	Splice_Site	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr10:72511852G>T	ENST00000373208.1	+	18	2607	c.2605_splice	c.e18-1	p.G869_splice	ADAMTS14_ENST00000373207.1_Splice_Site_p.G866_splice	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	866	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCCATAGGGATCCAGTTCA	0.662000													8	20					0.00307968	0.00334067	0.003080	1	0
EPB41L5	57669	broad.mit.edu	37	2	120925517	120925517	+	Missense_Mutation	SNP	A	A	C	rs143558813	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr2:120925517A>C	ENST00000263713.5	+	24	2283	c.2069A>C	c.(2068-2070)cAt>cCt	p.H690P	EPB41L5_ENST00000443902.2_Intron|EPB41L5_ENST00000452780.1_Missense_Mutation_p.H689P|EPB41L5_ENST00000488691.1_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	690						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAGGAGGGACATGGTAATAAA	0.453000													5	100					0	0	0.001168	0	0
ZNF718	255403	broad.mit.edu	37	4	154749	154749	+	RNA	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr4:154749G>C	ENST00000510175.1	+	0	184							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAGGGCATAGAAGATTCATT	0.328000													9	39					0	0	0.008291	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68050596	68050596	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr14:68050596C>T	ENST00000329153.5	+	25	3697	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	PLEKHH1_ENST00000417684.2_Silent_p.L54L	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1189	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGCTGAACAGCTGAGGTAGGT	0.582000											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	0.006214	0	0
SV2C	22987	broad.mit.edu	37	5	75427937	75427937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr5:75427937G>A	ENST00000502798.2	+	2	804	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R121Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	121					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGGACCGGCGGGAGCTGGAA	0.547000													7	49					0	0	0.003080	0	0
CAMKK1	84254	broad.mit.edu	37	17	3785559	3785559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr17:3785559G>A	ENST00000381771.2	-	8	938	c.791C>T	c.(790-792)gCg>gTg	p.A264V	CAMKK1_ENST00000158166.5_Missense_Mutation_p.A264V|CAMKK1_ENST00000348335.2_Intron|CAMKK1_ENST00000381769.2_Intron			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACCTGAGCGCGCAGCCCACGT	0.537000													5	72					0	0	0.001168	0	0
FKBP4	2288	broad.mit.edu	37	12	2909727	2909727	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr12:2909727T>C	ENST00000001008.4	+	8	1203	c.1016T>C	c.(1015-1017)aTt>aCt	p.I339T	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	339	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TCTGCTGCCATTGAAAGCTGT	0.532000													9	39					0	0	0.008291	0	0
PODXL2	50512	broad.mit.edu	37	3	127379692	127379692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:127379692G>A	ENST00000342480.6	+	3	860	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	274					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCTGCAGGGCTTGGGGTA	0.637000													7	45					0	0	0.003080	0	0
LRP1	4035	broad.mit.edu	37	12	57571375	57571375	+	Splice_Site	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr12:57571375G>T	ENST00000243077.3	+	26	4827		c.e26+1			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGACGCCAGGTCAGCACCCT	0.652000													9	19					2.74318e-10	3.37622e-10	0.006214	1	0
TREX2	11219	broad.mit.edu	37	X	152710829	152710829	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chrX:152710829G>A	ENST00000330912.2	-	13	1610	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TREX2_ENST00000393862.2_Silent_p.L20L|TREX2_ENST00000334497.2_Silent_p.L63L|TREX2_ENST00000338525.2_Silent_p.L20L|TREX2_ENST00000402951.1_Silent_p.L63L|TREX2_ENST00000370232.1_Silent_p.L63L|TREX2_ENST00000414588.1_Silent_p.L62L|TREX2_ENST00000370231.2_Silent_p.L20L			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	63					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACACTGGGGAGCCCAGTGG	0.622000								Editing and processing nucleases					5	6					0	0	0.001168	0	0
SDK1	221935	broad.mit.edu	37	7	4116798	4116798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr7:4116798C>T	ENST00000404826.2	+	21	3318	c.3179C>T	c.(3178-3180)aCc>aTc	p.T1060I	SDK1_ENST00000389531.3_Missense_Mutation_p.T1060I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1060	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACTTCATCCACCATTTCTTCT	0.562000													6	27					0	0	0.001168	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941219	52941219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:52941219C>G	ENST00000394752.3	-	19	2579	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	SFMBT1_ENST00000296295.6_Missense_Mutation_p.E733Q|SFMBT1_ENST00000394750.1_Missense_Mutation_p.E733Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.E733Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	733					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTTTTTTCTGACATTTCT	0.463000													8	87					0	0	0.003080	0	0
PDXDC1	23042	broad.mit.edu	37	16	15110041	15110041	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr16:15110041G>C	ENST00000396410.4	+	9	880	c.783G>C	c.(781-783)gaG>gaC	p.E261D	PDXDC1_ENST00000447912.2_Missense_Mutation_p.E170D|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E234D|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E261D|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E238D|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E233D|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E279D|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E246D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	261					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AACTCTGTGAGCAGTATGGCA	0.502000													8	55					0	0	0.003080	0	0
JAG1	182	broad.mit.edu	37	20	10630209	10630209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr20:10630209C>T	ENST00000254958.5	-	10	1824	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	JAG1_ENST00000423891.2_Missense_Mutation_p.D278N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	437	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACAGTCGCAGTAGTAG	0.458000									Alagille Syndrome				9	39					0	0	0.004482	0	0
RRP1	8568	broad.mit.edu	37	21	45213246	45213246	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr21:45213246G>T	ENST00000497547.1	+	4	438	c.321G>T	c.(319-321)tgG>tgT	p.W107C		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	107					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATCGCGAGTGGACGGGCATTG	0.612000													9	122					4.68919e-08	5.55756e-08	0.008291	1	0
NBPF15	284565	broad.mit.edu	37	1	148594513	148594513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr1:148594513G>A	ENST00000442702.2	+	21	2953	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	NBPF15_ENST00000369187.3_Missense_Mutation_p.R629K	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	629	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGCACTACAGAAGTGTGTTT	0.438000													18	421					0	0	0.002780	0	0
WFS1	7466	broad.mit.edu	37	4	6303197	6303197	+	Missense_Mutation	SNP	G	G	A	rs55814513	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr4:6303197G>A	ENST00000226760.1	+	8	1845	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	WFS1_ENST00000503569.1_Missense_Mutation_p.A559T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	559			A -> T (in dbSNP:rs55814513).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTGCTCCGCGCCTCCATCGG	0.652000													6	100					0	0	0.001168	0	0
FAM3A	60343	broad.mit.edu	37	X	153740200	153740200	+	Silent	SNP	T	T	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chrX:153740200T>A	ENST00000434658.2	-	3	601	c.132A>T	c.(130-132)ccA>ccT	p.P44P	FAM3A_ENST00000369643.1_Silent_p.P44P|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000393572.1_Silent_p.P6P|FAM3A_ENST00000359889.5_Silent_p.P44P|FAM3A_ENST00000447601.2_Silent_p.P44P|FAM3A_ENST00000369641.3_Silent_p.P44P	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	44						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGAGCTCTCTGGACCTGTGG	0.632000											OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	36					0	0	0.002450	0	0
CPNE9	151835	broad.mit.edu	37	3	9757198	9757198	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:9757198C>T	ENST00000383832.3	+	13	1000	c.810C>T	c.(808-810)gtC>gtT	p.V270V	CPNE9_ENST00000383831.3_Silent_p.V270V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	270										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAATATGTCAACTCAGGAA	0.512000													21	35					0	0	0.003330	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605383	140605383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr5:140605383C>A	ENST00000239449.4	+	1	2306	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P616Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCTGAAGCCGATTATCCCC	0.453000													8	90					5.4927e-09	6.6327e-09	0.004482	1	0
KCNG4	93107	broad.mit.edu	37	16	84270496	84270496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr16:84270496C>T	ENST00000568181.1	-	2	716	c.596G>A	c.(595-597)cGc>cAc	p.R199H	KCNG4_ENST00000308251.4_Missense_Mutation_p.R199H			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	199						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R199H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGCCCCAGCGCGAGGAGTG	0.677000													15	36					0	0	0.002450	0	0
HIPK4	147746	broad.mit.edu	37	19	40887043	40887043	+	Silent	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr19:40887043G>C	ENST00000291823.2	-	3	1139	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	285	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAACGACTTGAGCATATACT	0.632000													12	34					0	0	0.010729	0	0
ADSSL1	122622	broad.mit.edu	37	14	105201381	105201381	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr14:105201381G>T	ENST00000332972.5	+	2	505	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	ADSSL1_ENST00000330877.2_Missense_Mutation_p.V73L	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	73					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CGGCCACACGGTGGTGGTGGA	0.627000													4	21					0.00909568	0.00970206	0.009096	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													4	46					0	0	0.000602	0	0
MDGA2	161357	broad.mit.edu	37	14	47530570	47530570	+	Silent	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr14:47530570T>C	ENST00000426342.1	-	7	1259	c.513A>G	c.(511-513)acA>acG	p.T171T	MDGA2_ENST00000357362.3_Silent_p.T171T|MDGA2_ENST00000399232.2_Silent_p.T469T|MDGA2_ENST00000439988.2_Silent_p.T400T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	400	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCCAAGTTTGTTGTTCCCG	0.403000													8	182					0	0	0.003080	0	0
DVL3	1857	broad.mit.edu	37	3	183882981	183882981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:183882981C>T	ENST00000313143.3	+	6	928	c.680C>T	c.(679-681)tCt>tTt	p.S227F	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.S227F	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	227					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGAAGGTTTCTCGGATTGAG	0.597000													13	30					0	0	0.001855	0	0
CPNE9	151835	broad.mit.edu	37	3	9757188	9757188	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:9757188A>T	ENST00000383832.3	+	13	990	c.800A>T	c.(799-801)aAg>aTg	p.K267M	CPNE9_ENST00000383831.3_Missense_Mutation_p.K267M	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	267	Poly-Lys.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGTAAGAAGAAGAAATATGTC	0.498000													25	43					0	0	0.006320	0	0
TWF2	11344	broad.mit.edu	37	3	52263196	52263196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr3:52263196C>T	ENST00000305533.5	-	9	1147	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000597542.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGTCAGCTCTGCCCCATCG	0.652000													4	60					0	0	0.000602	0	0
VIT	5212	broad.mit.edu	37	2	37028521	37028521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr2:37028521C>T	ENST00000379242.3	+	13	1438	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I	VIT_ENST00000389975.3_Missense_Mutation_p.T364I|VIT_ENST00000497382.1_Missense_Mutation_p.T33I|VIT_ENST00000401530.1_Missense_Mutation_p.T343I|VIT_ENST00000379241.3_Missense_Mutation_p.T342I|VIT_ENST00000404084.1_Missense_Mutation_p.T316I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	364	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGAAAATTACTCAGAGAGGA	0.393000													13	167					0	0	0.001855	0	0
SGCA	6442	broad.mit.edu	37	17	48245850	48245850	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr17:48245850C>T	ENST00000262018.3	+	5	537	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SGCA_ENST00000543315.1_Silent_p.P167P|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000451235.2_Silent_p.P65P|SGCA_ENST00000344627.6_Silent_p.P167P	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	167					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TCTGGGAGCCCGGAGAGCTTC	0.642000													5	1					0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19478948	19478948	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr1:19478948C>T	ENST00000375267.2	-	47	6858	c.6855G>A	c.(6853-6855)gtG>gtA	p.V2285V	UBR4_ENST00000375254.3_Silent_p.V2285V|UBR4_ENST00000375226.2_Silent_p.V2285V|UBR4_ENST00000375217.2_Silent_p.V2285V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2285					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGAAAGTCACCTGGCTAG	0.507000													8	153					0	0	0.004482	0	0
FZD4	8322	broad.mit.edu	37	11	86662820	86662820	+	Silent	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr11:86662820A>G	ENST00000531380.1	-	2	1283	c.978T>C	c.(976-978)acT>acC	p.T326T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	326					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAAAAACCAAGTGAGTGTCA	0.453000													4	22					0	0	0.009096	0	0
EPHA2	1969	broad.mit.edu	37	1	16475205	16475210	+	In_Frame_Del	DEL	TTCAGC	TTCAGC	-	rs146626026	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:16475205_16475210delTTCAGC	ENST00000358432.5	-	3	640_645	c.486_491delGCTGAA	c.(484-492)aac>aa	p.KLN162del	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	162					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCTCCACGTTCAGCTTCACGTGGC	0.612													25	48	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													5	8	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32498892	32498892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:32498892delT	ENST00000327300.7	+	4	895	c.728delT	c.(727-729)ctfs	p.L243fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.L204fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	243					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTATGCTCTTATGGCCCAT	0.458													32	80	---	---	---	---					
GGCX	2677	broad.mit.edu	37	2	85779683	85779683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:85779683delG	ENST00000233838.3	-	10	1375	c.1295delC	c.(1294-1296)aafs	p.T432fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.T375fs|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	432					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCGACTCTGTGTAAATACCTG	0.512											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	174	---	---	---	---					
NCL	4691	broad.mit.edu	37	2	232326268	232326285	+	In_Frame_Del	DEL	TCGTCATCCTCATCATCT	TCGTCATCCTCATCATCT	-	rs80005798	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:232326268_232326285delTCGTCATCCTCATCATCT	ENST00000322723.4	-	3	819_836	c.579_596delAGATGATGAGGATGACGA	c.(577-597)gat>ga	p.EDDEDDD193del		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	193	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ctcatcgtcatcgtcatcctcatcatcttcgtcatcct	0.482													21	85	---	---	---	---					
RP11-463H12.2	0	broad.mit.edu	37	4	55811699	55811702	+	RNA	DEL	GGAG	GGAG	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:55811699_55811702delGGAG	ENST00000509711.1	+	0	58																											tggcagaggaggagggagggaggg	0.505													2	4	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	156	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													7	186	---	---	---	---					
RIC3	79608	broad.mit.edu	37	11	8158952	8158953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:8158952_8158953insT	ENST00000343202.4	-	4	558_559	c.493_494insA	c.(493-495)caafs	p.Q165fs	RIC3_ENST00000309737.6_Frame_Shift_Ins_p.Q165fs|RIC3_ENST00000539720.1_Frame_Shift_Ins_p.Q116fs|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000530060.1_5'UTR	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	165				I -> F (in Ref. 6; AAH22455).		endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CACTCTGTTGATTAATTTTTCC	0.411													7	166	---	---	---	---					
SPSB2	84727	broad.mit.edu	37	12	6981568	6981569	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:6981568_6981569delTC	ENST00000519357.1	-	2	683_684	c.497_498delGA	c.(496-498)afs	p.R166fs	SPSB2_ENST00000523102.1_Frame_Shift_Del_p.R166fs|SPSB2_ENST00000524270.1_Frame_Shift_Del_p.R166fs			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	166	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCACCAGCAGTCTCTCTGGCAC	0.644											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	77	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75230471	75230471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:75230471delG	ENST00000325680.7	+	1	403	c.279delG	c.(277-279)ccfs	p.P93fs	YLPM1_ENST00000552421.1_Frame_Shift_Del_p.P93fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.P93fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	93	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGTGATGCCGGGGGGCGGCT	0.682													7	38	---	---	---	---					
RIC3	79608	broad.mit.edu	37	11	8158952	8158953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr11:8158952_8158953insT	ENST00000343202.4	-	4	558_559	c.493_494insA	c.(493-495)caafs	p.Q165fs	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000309737.6_Frame_Shift_Ins_p.Q165fs|RIC3_ENST00000539720.1_Frame_Shift_Ins_p.Q116fs|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000530060.1_5'UTR	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	165				I -> F (in Ref. 6; AAH22455).		endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CACTCTGTTGATTAATTTTTCC	0.411													7	166	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													4	7	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													4	9	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	831170c2-4ee6-4524-a570-5023a9e3d1f3	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													4	4	---	---	---	---